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Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSC2
(A897fs)
Duplication
(3 prime UTR variant +1 more)
Familial isolated arrhythmogenic right ventricular dysplasia
+6 more
GBenign/Likely benign
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+4 more
GBenign/Likely benign
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+2 more
GLikely benign
DSC2
(S864L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
+2 more
GUncertain significance
DSC2
(G863fs)
Microsatellite
(3 prime UTR variant +1 more)
Cardiomyopathy
+2 more
GUncertain significance
DSC2
(Y839C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
+1 more
GUncertain significance
DSC2
(R833C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
DSC2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
DSC2
(G790del)
Microsatellite
(inframe_deletion)
Hypertrophic cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
DSC2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GLikely benign
DSC2
(L732V)
Single nucleotide variant
(missense variant)
DSC2-related disorder
+7 more
GConflicting classifications of pathogenicity
DSC2
(D731N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DSC2
(T721K)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
DSC2
(G703V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSC2
(H679R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+3 more
GUncertain significance
DSC2
(D665G)
Single nucleotide variant
(missense variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+3 more
GUncertain significance
DSC2
(Q638H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
DSC2
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
DSC2
(A596V)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
DSC2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GLikely benign
DSC2
(A592V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
DSC2
(I577V)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
DSC2
Single nucleotide variant
(synonymous variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+5 more
GBenign/Likely benign
DSC2
(N571S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
DSC2
(I540M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+3 more
GConflicting classifications of pathogenicity
DSC2
(I520T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
DSC2
(D513Y)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DSC2
Single nucleotide variant
(intron variant)
DSC2-related disorder
+3 more
GLikely benign
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
+4 more
GBenign/Likely benign
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
+5 more
GBenign/Likely benign
DSC2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
DSC2
(T358I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
DSC2
(Y332H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
DSC2
(D317N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
DSC2
(V303M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+4 more
GConflicting classifications of pathogenicity
DSC2
(T300A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+2 more
GUncertain significance
DSC2
(T268A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
DSC2
(I231del)
Microsatellite
(inframe_deletion)
Cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+3 more
GConflicting classifications of pathogenicity
DSC2
(Y221C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSC2
(E207Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
DSC2
(G177R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(intron variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+3 more
GConflicting classifications of pathogenicity
DSC2
(A133T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
DSC2
(H124Y)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
DSC2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GLikely benign
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
+2 more
GLikely benign
DSC2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 11
+4 more
GBenign/Likely benign
DSC2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GBenign/Likely benign
DSC2
(I109M)
Single nucleotide variant
(missense variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+5 more
GConflicting classifications of pathogenicity
DSC2
(E102K)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
DSC2
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
DSC2
(F58V)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
DSC2
Single nucleotide variant
(splice donor variant)
Cardiomyopathy
GLikely pathogenic
DSC2
(G50D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DSC2
Deletion
(nonsense)
not provided
+6 more
GConflicting classifications of pathogenicity
DSC2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 11
+1 more
GLikely benign
DSC2, DSCAS
(G12R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GBenign/Likely benign
DSC2, DSCAS
(N11S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GBenign
DSC2, DSCAS
(G8V)
Single nucleotide variant
(missense variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+5 more
GConflicting classifications of pathogenicity
DSC2, DSCAS
(S7F)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 11
+2 more
GUncertain significance
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